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CLINT1 Gene

protein-coding   GIFtS: 59
GCID: GC05M157212

Clathrin Interactor 1

  See CLINT1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Clathrin Interactor 11 2     enthoprotin2
EPN42 3 5     Epsin 42
EPNR2 3 5     epsinR2
Epsin-Related Protein2 3     Clint3
ENTH2 3     Enthoprotin3
KIAA01713 5     Epsin-43
CLINT2     EpsinR3
Clathrin Interacting Protein Localized In The Trans-Golgi Region2     Clathrin-Interacting Protein Localized In The Trans-Golgi Region3

External Ids:    HGNC: 231861   Entrez Gene: 96852   Ensembl: ENSG000001132827   OMIM: 6072655   UniProtKB: Q146773   

Export aliases for CLINT1 gene to outside databases

Previous GC identifers: GC05M157146 GC05M152305


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CLINT1 Gene:
This gene encodes a protein with similarity to the epsin family of endocytic adapter proteins. The encoded protein
interacts with clathrin, the adapter protein AP-1 and phosphoinositides. This protein may be involved in the
formation of clathrin coated vesicles and trafficking between the trans-Golgi network and endosomes. Mutations in
this gene are associated with a susceptibility to schizophrenia and psychotic disorders. Alternate splicing
results in multiple transcript variants. (provided by RefSeq, Sep 2010)

GeneCards Summary for CLINT1 Gene:
CLINT1 (clathrin interactor 1) is a protein-coding gene. Diseases associated with CLINT1 include schizophrenia. GO annotations related to this gene include lipid binding and clathrin binding. An important paralog of this gene is EPN1.

UniProtKB/Swiss-Prot: EPN4_HUMAN, Q14677
Function: Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). May have a role in
transport via clathrin-coated vesicles from the trans-Golgi network to endosomes. Stimulates clathrin assembly

Gene Wiki entry for CLINT1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_023133.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the CLINT1 gene promoter:
         AML1a   AP-2alpha isoform 3   Nkx2-5   AP-2alpha isoform 2   E4BP4   GATA-6   FOXO4   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCLINT1 promoter sequence
   Search Chromatin IP Primers for CLINT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CLINT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q33.3   Ensembl cytogenetic band:  5q33.3   HGNC cytogenetic band: 5q33.3

CLINT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLINT1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M157212:  view genomic region     (about GC identifiers)

Start:
157,212,751 bp from pter      End:
157,286,183 bp from pter
Size:
73,433 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: EPN4_HUMAN, Q14677 (See protein sequence)
Recommended Name: Clathrin interactor 1  
Size: 625 amino acids; 68259 Da
Subunit: Binds clathrin heavy chain, GGA2, AP-2 and AP1G1
Sequence caution: Sequence=BAA11488.2; Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for CLINT1:
1XGW (3D)        2QY7 (3D)        2V8S (3D)    
Secondary accessions: B7Z6F8 D3DQJ6 Q8NAF1 Q96E05
Alternative splicing: 3 isoforms:  Q14677-1   Q14677-2   Q14677-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CLINT1: NX_Q14677

Explore proteomics data for CLINT1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys158, Lys183, Lys200, Lys207, Lys218, Lys297, Lys314, Lys467
  • Modification sites at PhosphoSitePlus

  • See CLINT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001182484.1  NP_001182485.1  NP_055481.1  

    ENSEMBL proteins: 
     ENSP00000429345   ENSP00000433419   ENSP00000388340   ENSP00000429824   ENSP00000434334  
     ENSP00000431858   ENSP00000433013   ENSP00000296951  
    Reactome Protein details: Q14677

    CLINT1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for CLINT1

     
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    Search eBioscience for ELISAs for CLINT1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR001026 Epsin_dom_N
     IPR008942 ENTH_VHS
     IPR013809 Epsin-like_N

    Graphical View of Domain Structure for InterPro Entry Q14677

    ProtoNet protein and cluster: Q14677

    2 Blocks protein domains:
    IPB001026 Epsin N-terminal homology
    IPB013809 Epsin-like


    UniProtKB/Swiss-Prot: EPN4_HUMAN, Q14677
    Similarity: Belongs to the epsin family
    Similarity: Contains 1 ENTH (epsin N-terminal homology) domain


    Find genes that share domains with CLINT1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EPN4_HUMAN, Q14677
    Function: Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). May have a role in
    transport via clathrin-coated vesicles from the trans-Golgi network to endosomes. Stimulates clathrin assembly

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12429846
    GO:0005543phospholipid binding ----
    GO:0008289lipid binding IEA--
    GO:0030276clathrin binding IPI12429846
         
    Find genes that share ontologies with CLINT1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CLINT1:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CLINT1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CLINT1

    miRNA
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    miRTarBase miRNAs that target CLINT1:
    hsa-mir-155-5p (MIRT020844), hsa-mir-145-5p (MIRT000678), hsa-mir-26b-5p (MIRT029629), hsa-let-7b-5p (MIRT052154), hsa-mir-98-5p (MIRT027639)

    Block miRNA regulation of human, mouse, rat CLINT1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CLINT1 (see all 37):
    hsa-miR-4291 hsa-miR-26a-2* hsa-miR-488 hsa-miR-548l hsa-miR-34b hsa-miR-3163 hsa-miR-433 hsa-miR-548am
    SwitchGear 3'UTR luciferase reporter plasmidCLINT1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CLINT1

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    GenScript: all cDNA clones in your preferred vector (see all 3): CLINT1 (NM_001195556)
    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLINT1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EPN4_HUMAN, Q14677: Cytoplasm. Cytoplasm, perinuclear region. Membrane; Peripheral membrane protein. Cytoplasmic
    vesicle, clathrin-coated vesicle. Note=Found throughout the cell, with the exception of the cell surface.
    Concentrated in the perinuclear region and associated with clathrin-coated vesicles close to the trans-Golgi
    network
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytosol4
    nucleus3
    endosome2
    plasma membrane2

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005794Golgi apparatus IDA10942595
    GO:0005829cytosol TAS--
    GO:0016020membrane IEA--

    Find genes that share ontologies with CLINT1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CLINT1 About    
    See pathways by source

    SuperPathContained pathways About
    1Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    Membrane Trafficking0.32


    Find genes that share SuperPaths with CLINT1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for CLINT1
        Golgi Associated Vesicle Biogenesis


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CLINT1
    Interactions:

        GeneGlobe Interaction Network for CLINT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CLINT1 (Q146771, 2, 3 ENSP000003883404) via UniProtKB, MINT, STRING, and/or I2D (see all 618)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    Ap1g1P228921, 2EBI-1171113,EBI-1040262 MINT-7025947 MINT-7026009 MINT-7026064 MINT-7026084 MINT-7025868 MINT-7026026 MINT-7025966 MINT-7025919 MINT-7026043 MINT-7025992
    GABARAPL1Q9H0R81, 3EBI-1171113,EBI-746969 I2D: score=3 
    MAP1LC3BQ9GZQ81, 3EBI-1171113,EBI-373144 I2D: score=3 
    CALM1P621583I2D: score=1 
    CALM2P621583I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006892post-Golgi vesicle-mediated transport TAS--
    GO:0006897endocytosis IEA--
    GO:0048268clathrin coat assembly IEA--
    GO:0061024membrane organization TAS--

    Find genes that share ontologies with CLINT1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CLINT1 (EPN4)

    2 Novoseek inferred chemical compound relationships for CLINT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphoinositide 43.8 3 14993348 (1), 19160662 (1)
    lipid 0 2 17825837 (1), 15869386 (1)



    Find genes that share compounds with CLINT1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CLINT1 gene (3 alternative transcripts): 
    NM_001195555.1  NM_001195556.1  NM_014666.3  

    Unigene Cluster for CLINT1:

    Clathrin interactor 1
    Hs.644000  [show with all ESTs]
    Unigene Representative Sequence: NM_001195555
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000523094(uc003lxi.2 uc011ddv.2 uc003lxj.2) ENST00000524306(uc003lxg.2)
    ENST00000530742 ENST00000411809 ENST00000518855(uc003lxh.2) ENST00000523908
    ENST00000522381 ENST00000521047 ENST00000530302 ENST00000521615 ENST00000296951

    miRNA
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    Block miRNA regulation of human, mouse, rat CLINT1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CLINT1 (see all 37):
    hsa-miR-4291 hsa-miR-26a-2* hsa-miR-488 hsa-miR-548l hsa-miR-34b hsa-miR-3163 hsa-miR-433 hsa-miR-548am
    SwitchGear 3'UTR luciferase reporter plasmidCLINT1 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector (see all 3): CLINT1 (NM_001195556)
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      QuantiTect SYBR Green Assays in human, mouse, rat CLINT1
      QuantiFast Probe-based Assays in human, mouse, rat CLINT1

    Additional mRNA sequence: 

    AF434813.1 AK092765.1 AK128594.1 AK300257.1 BC004467.2 BC013091.1 D79993.1 

    14 DOTS entries:

    DT.217756  DT.100036624  DT.100731054  DT.97823805  DT.91695125  DT.100842007  DT.95150685  DT.91761005 
    DT.91761014  DT.100842003  DT.100842006  DT.91761008  DT.95150696  DT.102825244 

    Selected AceView cDNA sequences (see all 339):

    BC004467 CN482663 BU676840 AI623384 CA776629 AU108064 CA394105 BF668588 
    BC030264 AI479270 BQ923982 AA280281 BM126735 N99412 BE711177 AA028889 
    AV661276 R26250 BK000414 AI014915 BQ068235 BM479721 BQ231405 AI767346 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CLINT1 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c · 13d · 13e
    SP1:              -                                                                                   -     -                 -                           
    SP2:                                                                                                  -     -     -           -                           
    SP3:                                                                                                                                                      
    SP4:                                                                                                  -           -           -                           
    SP5:                                                                          -                                                                           


    ECgene alternative splicing isoforms for CLINT1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CLINT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CLINT1 Expression
    About this image


    CLINT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Endochondral Facial Bones
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Hindgut
     
     Cartilage (Muscoskeletal System)
             Laryngeal Cartilage
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    CLINT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CLINT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.644000

    UniProtKB/Swiss-Prot: EPN4_HUMAN, Q14677
    Tissue specificity: Ubiquitously expressed at low to intermediate levels

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    QuantiFast Probe-based Assays in human, mouse, rat CLINT1
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLINT1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for CLINT1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Clint11 , 5 clathrin interactor 11, 5 89.99(n)1
    94.7(a)1
      11 (27.45 cM)5
    2167051  NM_001045520.31  NP_001038985.21 
     458520515 
    chicken
    (Gallus gallus)
    Aves CLINT11 clathrin interactor 1 81.8(n)
    84.09(a)
      416240  NM_001030615.1  NP_001025786.1 
    lizard
    (Anolis carolinensis)
    Reptilia CLINT16
    clathrin interactor 1
    81(a)
    1 ↔ 1
    GL343205.1(2928176-3023363)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.14402 Xenopus laevis transcribed sequence with moderate similarity more 85.38(n)    BG553156.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa05f052 wufa05f05 74.34(n)   334863  57044700 
    fruit fly
    (Drosophila melanogaster)
    Insecta lqfR1 liquid facets-Related 50.13(n)
    48.22(a)
      42632  NM_170009.4  NP_732734.3 
    worm
    (Caenorhabditis elegans)
    Secernentea rsd-36
    Protein RSD-3 (rsd-3) mRNA, complete cds
    28(a)
    many ↔ many
    X(11798505-11803657) WBGene00004682
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ENT36
    Protein containing an N-terminal epsin-like domain...
    25(a)
    1 → many
    X(654737-655963) YJR125C


    ENSEMBL Gene Tree for CLINT1 (if available)
    TreeFam Gene Tree for CLINT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CLINT1 gene
    EPN12  EPN22  EPN32  ENTHD12  

    Find genes that share paralogs with CLINT1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    EPN4_HUMAN, Q14677: Genetic variations in CLINT1 may contribute to susceptibility to schizophrenia and psychotic
    disorders in some populations


    Selected SNPs for CLINT1 (see all 1414)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs106320851,2
    C--152359060(+) CAAAA-/ATCT  
            
    atcta
    3 -- int10--------
    rs1391380151,2
    C--152359060(+) CAAAA-/ATCTA 
     TCTATCT
    ATCTA
    3 -- int10--------
    rs2008366701,2
    C--152359060(+) CAAAA-/ATCTATC
    TATCTATCT
    ATCTA
    3 -- int10--------
    rs353094291,2
    C--152359061(+) AAAAA-/ATCT  
            
    TCTAT
    3 -- int10--------
    rs2001770841,2
    C--157212665(+) AAAAA-/AGATAT 3 -- ds50010--------
    rs717213661,2
    C--157219263(+) AAAAA-/ATGGCC 3 -- int11Minor allele frequency- A:0.50CSA 2
    rs747542921,2
    C--157220223(+) TGATC-/T/TT  
            
    TTTTT
    3 -- int10--------
    rs716656691,2
    C--157223896(+) TATAT-/ATATATA 3 -- int10--------
    rs350663081,2
    C--157228907(+) TAAAGT/-TTTTT 3 -- int11Minor allele frequency- -:0.50CSA 2
    rs611315201,2
    C--157231046(+) TCATT-/AAA   
      AAAAAA
    AAAAA
    3 -- int10--------

    HapMap Linkage Disequilibrium report for CLINT1 (157212751 - 157286183 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CLINT1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509097CNV Insertion20534489
    nsv521000CNV Loss19592680
    dgv1868e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CLINT1
    DNA2.0 Custom Variant and Variant Library Synthesis for CLINT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607265    OMIM disorders: --

    1 disease for CLINT1:    
    About MalaCards
    schizophrenia

    1 disease from the University of Copenhagen DISEASES database for CLINT1:
    Schizophrenia

    Find genes that share disorders with CLINT1           About GenesLikeMe

    1 Novoseek inferred disease relationship for CLINT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    schizophrenia 39.2 18 16402136 (4), 16616458 (4), 18696005 (3), 18929466 (2) (see all 6)

    Genetic Association Database (GAD): CLINT1
    Human Genome Epidemiology (HuGE) Navigator: CLINT1 (6 documents)

    Export disorders for CLINT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CLINT1 gene, integrated from 10 sources (see all 74):
    (articles sorted by number of sources associating them with CLINT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Enthoprotin: a novel clathrin-associated protein identified through subcellular proteomics. (PubMed id 12213833)1, 2, 3, 9 Wasiak S....McPherson P.S. (J. Cell Biol. 2002)
    2. The Epsin 4 gene on chromosome 5q, which encodes the clathrin- associated protein enthoprotin, is involved in the genetic susceptibility to schizophrenia. (PubMed id 15793701)1, 2, 4, 9 Pimm J.... Gurling H. (Am. J. Hum. Genet. 2005)
    3. Clint: a novel clathrin-binding ENTH-domain protein at the Golgi. (PubMed id 12429846)1, 2, 3 Kalthoff C.... Ungewickell E.J. (Mol. Biol. Cell 2002)
    4. Failure to confirm an association between Epsin 4 and schizophrenia in a Japanese population. (PubMed id 18696005)1, 4, 9 Richards M....Kunugi H. (J Neural Transm 2008)
    5. Family-based association study of Epsin 4 and Schizophrenia. (PubMed id 16402136)1, 4, 9 Tang R.Q....He L. (Mol. Psychiatry 2006)
    6. EpsinR: an AP1/clathrin interacting protein involved in vesicle trafficking. (PubMed id 12538641)1, 2, 9 Mills I.G.... McMahon H.T. (J. Cell Biol. 2003)
    7. The epsin 4 gene is associated with psychotic disorders in families of Latin American origin. (PubMed id 18929466)1, 4, 9 Escamilla M....Dassori A. (Schizophr. Res. 2008)
    8. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. (PubMed id 20398908)1, 4 Saus E....Estivill X. (J Psychiatr Res 2010)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9685 HGNC: 23186 AceView: ENTH Ensembl:ENSG00000113282 euGenes: HUgn9685
    ECgene: CLINT1 H-InvDB: CLINT1

    (According to HUGE)
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    HUGE: KIAA0171

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CLINT1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CLINT1 gene:
    Search GeneIP for patents involving CLINT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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